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Q13686

- ALKB1_HUMAN

UniProt

Q13686 - ALKB1_HUMAN

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Protein

Alkylated DNA repair protein alkB homolog 1

Gene

ALKBH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation (By similarity). Has DNA lyase activity and introduces double-stranded breaks at abasic sites. Cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites. DNA lyase activity does not require alpha-ketoglutarate and iron.By similarity2 Publications

Catalytic activityi

The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate.
DNA-base-CH3 + 2-oxoglutarate + O2 = DNA-base + formaldehyde + succinate + CO2.

Cofactori

Fe2+1 PublicationPROSITE-ProRule annotationNote: Binds 1 Fe(2+) ion per subunit.1 PublicationPROSITE-ProRule annotation

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei170 – 1701SubstrateBy similarity
Metal bindingi231 – 2311Iron; catalyticPROSITE-ProRule annotation
Metal bindingi233 – 2331Iron; catalyticPROSITE-ProRule annotation
Binding sitei261 – 2611SubstrateBy similarity
Metal bindingi287 – 2871Iron; catalyticPROSITE-ProRule annotation

GO - Molecular functioni

  1. chemoattractant activity Source: Ensembl
  2. DNA-(apurinic or apyrimidinic site) lyase activity Source: UniProtKB
  3. ferrous iron binding Source: UniProtKB
  4. methylcytosine dioxygenase activity Source: UniProtKB

GO - Biological processi

  1. developmental growth Source: Ensembl
  2. DNA catabolic process, endonucleolytic Source: GOC
  3. DNA dealkylation involved in DNA repair Source: UniProtKB
  4. DNA demethylation Source: UniProtKB
  5. DNA repair Source: UniProtKB
  6. in utero embryonic development Source: Ensembl
  7. negative regulation of neuron apoptotic process Source: Ensembl
  8. neuron migration Source: Ensembl
  9. neuron projection development Source: Ensembl
  10. oxidative demethylation Source: UniProtKB
  11. placenta development Source: Ensembl
  12. RNA repair Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Lyase, Oxidoreductase

Keywords - Biological processi

DNA damage, DNA repair, RNA repair

Keywords - Ligandi

Iron, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Alkylated DNA repair protein alkB homolog 1 (EC:1.14.11.33)
Alternative name(s):
Alpha-ketoglutarate-dependent dioxygenase ABH1
DNA lyase ABH1 (EC:4.2.99.18)
DNA oxidative demethylase ALKBH1
Gene namesi
Name:ALKBH1
Synonyms:ABH, ABH1, ALKBH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:17911. ALKBH1.

Subcellular locationi

Mitochondrion 2 Publications. Nucleus By similarity
Note: Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli.By similarity

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
  2. nuclear euchromatin Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi218 – 2181I → L: Reduces Fe2OG dioxygenase activity by 50%. 1 Publication
Mutagenesisi231 – 2311H → A: Near loss of Fe2OG dioxygenase activity. No effect on DNA lyase activity. 2 Publications
Mutagenesisi233 – 2331D → A: Loss of Fe2OG dioxygenase activity. No effect on DNA lyase activity. 2 Publications
Mutagenesisi287 – 2871H → A: Loss of Fe2OG dioxygenase activity. No effect on DNA lyase activity. 2 Publications
Mutagenesisi338 – 3381R → A: Reduced Fe2OG dioxygenase activity. 1 Publication
Mutagenesisi344 – 3441R → A: Reduced Fe2OG dioxygenase activity. 1 Publication

Organism-specific databases

PharmGKBiPA134906996.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 389389Alkylated DNA repair protein alkB homolog 1PRO_0000066668Add
BLAST

Proteomic databases

MaxQBiQ13686.
PaxDbiQ13686.
PRIDEiQ13686.

PTM databases

PhosphoSiteiQ13686.

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

BgeeiQ13686.
CleanExiHS_ALKBH1.
ExpressionAtlasiQ13686. baseline and differential.
GenevestigatoriQ13686.

Organism-specific databases

HPAiHPA044087.

Interactioni

Subunit structurei

Monomer. Interacts with DNAJB6 (By similarity).By similarity

Protein-protein interaction databases

BioGridi114372. 2 interactions.
STRINGi9606.ENSP00000216489.

Structurei

3D structure databases

ProteinModelPortaliQ13686.
SMRiQ13686. Positions 189-289.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini208 – 347140Fe2OG dioxygenasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni177 – 1793Substrate bindingBy similarity
Regioni220 – 2223Alpha-ketoglutarate bindingBy similarity
Regioni338 – 3447Alpha-ketoglutarate bindingBy similarity

Sequence similaritiesi

Belongs to the alkB family.Curated
Contains 1 Fe2OG dioxygenase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG3145.
GeneTreeiENSGT00390000004599.
HOGENOMiHOG000033905.
HOVERGENiHBG050487.
InParanoidiQ13686.
KOiK10765.
OMAiKKYSADH.
OrthoDBiEOG71P2CK.
PhylomeDBiQ13686.
TreeFamiTF314609.

Family and domain databases

Gene3Di2.60.120.590. 2 hits.
InterProiIPR004574. Alkb.
IPR027450. AlkB-like.
IPR005123. Oxoglu/Fe-dep_dioxygenase.
[Graphical view]
PfamiPF13532. 2OG-FeII_Oxy_2. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00568. alkb. 1 hit.
PROSITEiPS51471. FE2OG_OXY. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q13686-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGKMAAAVGS VATLATEPGE DAFRKLFRFY RQSRPGTADL EGVIDFSAAH
60 70 80 90 100
AARGKGPGAQ KVIKSQLNVS SVSEQNAYRA GLQPVSKWQA YGLKGYPGFI
110 120 130 140 150
FIPNPFLPGY QWHWVKQCLK LYSQKPNVCN LDKHMSKEET QDLWEQSKEF
160 170 180 190 200
LRYKEATKRR PRSLLEKLRW VTVGYHYNWD SKKYSADHYT PFPSDLGFLS
210 220 230 240 250
EQVAAACGFE DFRAEAGILN YYRLDSTLGI HVDRSELDHS KPLLSFSFGQ
260 270 280 290 300
SAIFLLGGLQ RDEAPTAMFM HSGDIMIMSG FSRLLNHAVP RVLPNPEGEG
310 320 330 340 350
LPHCLEAPLP AVLPRDSMVE PCSMEDWQVC ASYLKTARVN MTVRQVLATD
360 370 380
QNFPLEPIED EKRDISTEGF CHLDDQNSEV KRARINPDS
Length:389
Mass (Da):43,832
Last modified:December 1, 2000 - v2
Checksum:i539C4CE41D2D8AEC
GO

Sequence cautioni

The sequence CAA63047.1 differs from that shown. Reason: Frameshift at several positions. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti133 – 1331K → T in CAA63047. (PubMed:8600462)Curated
Sequence conflicti266 – 2672TA → PP in CAA63047. (PubMed:8600462)Curated
Sequence conflicti388 – 3881D → H in AAH25787. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351M → I.
Corresponds to variant rs17825440 [ dbSNP | Ensembl ].
VAR_048221
Natural varianti324 – 3241M → L.
Corresponds to variant rs6494 [ dbSNP | Ensembl ].
VAR_048222

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91992 mRNA. Translation: CAA63047.1. Frameshift.
AC008044 Genomic DNA. Translation: AAF01478.1.
BC025787 mRNA. Translation: AAH25787.1.
CCDSiCCDS32127.1.
PIRiS64736.
RefSeqiNP_006011.2. NM_006020.2.
UniGeneiHs.94542.

Genome annotation databases

EnsembliENST00000216489; ENSP00000216489; ENSG00000100601.
GeneIDi8846.
KEGGihsa:8846.
UCSCiuc001xuc.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91992 mRNA. Translation: CAA63047.1 . Frameshift.
AC008044 Genomic DNA. Translation: AAF01478.1 .
BC025787 mRNA. Translation: AAH25787.1 .
CCDSi CCDS32127.1.
PIRi S64736.
RefSeqi NP_006011.2. NM_006020.2.
UniGenei Hs.94542.

3D structure databases

ProteinModelPortali Q13686.
SMRi Q13686. Positions 189-289.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114372. 2 interactions.
STRINGi 9606.ENSP00000216489.

PTM databases

PhosphoSitei Q13686.

Proteomic databases

MaxQBi Q13686.
PaxDbi Q13686.
PRIDEi Q13686.

Protocols and materials databases

DNASUi 8846.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000216489 ; ENSP00000216489 ; ENSG00000100601 .
GeneIDi 8846.
KEGGi hsa:8846.
UCSCi uc001xuc.1. human.

Organism-specific databases

CTDi 8846.
GeneCardsi GC14M078138.
H-InvDB HIX0011855.
HGNCi HGNC:17911. ALKBH1.
HPAi HPA044087.
MIMi 605345. gene.
neXtProti NX_Q13686.
PharmGKBi PA134906996.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3145.
GeneTreei ENSGT00390000004599.
HOGENOMi HOG000033905.
HOVERGENi HBG050487.
InParanoidi Q13686.
KOi K10765.
OMAi KKYSADH.
OrthoDBi EOG71P2CK.
PhylomeDBi Q13686.
TreeFami TF314609.

Miscellaneous databases

ChiTaRSi ALKBH1. human.
GenomeRNAii 8846.
NextBioi 33208.
PROi Q13686.
SOURCEi Search...

Gene expression databases

Bgeei Q13686.
CleanExi HS_ALKBH1.
ExpressionAtlasi Q13686. baseline and differential.
Genevestigatori Q13686.

Family and domain databases

Gene3Di 2.60.120.590. 2 hits.
InterProi IPR004574. Alkb.
IPR027450. AlkB-like.
IPR005123. Oxoglu/Fe-dep_dioxygenase.
[Graphical view ]
Pfami PF13532. 2OG-FeII_Oxy_2. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00568. alkb. 1 hit.
PROSITEi PS51471. FE2OG_OXY. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and functional analysis of a human cDNA encoding an Escherichia coli AlkB homolog, a protein involved in DNA alkylation damage repair."
    Wei Y.F., Carter K.C., Wang R.P., Shell B.K.
    Nucleic Acids Res. 24:931-937(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Synovial sarcoma.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  4. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  5. "Human AlkB homolog 1 is a mitochondrial protein that demethylates 3-methylcytosine in DNA and RNA."
    Westbye M.P., Feyzi E., Aas P.A., Vagbo C.B., Talstad V.A., Kavli B., Hagen L., Sundheim O., Akbari M., Liabakk N.B., Slupphaug G., Otterlei M., Krokan H.E.
    J. Biol. Chem. 283:25046-25056(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, COFACTOR, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-218; HIS-231; ASP-233; HIS-287; ARG-338 AND ARG-344, IDENTIFICATION BY MASS SPECTROMETRY, TISSUE SPECIFICITY.
  6. "Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites."
    Muller T.A., Meek K., Hausinger R.P.
    DNA Repair 9:58-65(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF HIS-231; ASP-233 AND HIS-287, SUBUNIT.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiALKB1_HUMAN
AccessioniPrimary (citable) accession number: Q13686
Secondary accession number(s): Q8TAU1, Q9ULA7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: November 26, 2014
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Detected in cytoplasm and nucleus When expressed as fusion protein with an N-terminal tag, or when the first 26 N-terminal residues are removed (PubMed:17979886 and PubMed:18603530). The endogenous, unmodified protein localizes to mitochondria (PubMed:18603530).1 Publication

Keywords - Technical termi

Complete proteome, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3